A28D (p.Ala28Asp) variant of ALDH5A1 (P51649)
A28D (p.Ala28Asp) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 6-24495079-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.23
- MetaLR 0.15
- MetaSVM -0.90
- CADD 16.50
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available